Presentation
Nystagmus.
Patient Data
Age: 1 year
Gender: Male
From the case:
Joubert syndrome
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Elongated superior cerebellar peduncles give the midbrain the appearance of a molar tooth.
Aplastic cerebellar vermis and diminished volume of the left cerebral peduncle.
Absence of fiber decussation in the superior cerebellar peduncles and pyramidal tracts.
Case Discussion
The molar tooth sign was initially described in Joubert syndrome and related disorders (JSRD).
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